Abstract
Ataxia telangiectasia (AT) is an autosomal recessive syndrome characterized by progressive cerebellar ataxia, immunodeficiency, which usually takes the form of sinopulmonary infections, oculocutaneous telangiectasia, X-ray hypersensitivity, and predisposition to lymphoid malignancies. A case of ataxia telangiectasia in a Yemeni boy with cerebellar atrophy, mottled pigmentations, scarring, recurrent sinopulmonary infections, and elevated alfa-fetoprotein. Ataxia telangiectasia should be suspected in the presence of progressive gait deterioration, recurrent sinupulmonary infections, inverted T4/T8 ratio, reduced B-cell count and ocular/oculo-cutaneous telangiectasia and abnormal cellular immunity. Elevated alpha-feto protein is a confirmatory test and should be done in all patients with AT.
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